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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/258100
http://purl.bioontology.org/ontology/OMIM/258100
|
|---|---|
| Preferred Name | OGUCHI DISEASE 1 |
| Synonyms |
CSNBO1
NIGHT BLINDNESS, CONGENITAL STATIONARY, OGUCHI TYPE 1
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
CSNBO1
NIGHT BLINDNESS, CONGENITAL STATIONARY, OGUCHI TYPE 1
|
|---|---|
| prefLabel | OGUCHI DISEASE 1
|
| Gene Symbol |
RP47
RP96
SAG
|
| Scope Statement | Other visual functions, including visual acuity, visual field, and color vision, are usually normal in these patients [MISCELLANEOUS]
Caused by mutation in the S-antigen gene (SAG, 181031.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation | |
| tui | T047
|
| Gene Locus | 2q37.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 258100
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4551824
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |